+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 1

Genes:
RFPL2,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

RFPL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_66.variant27 22 rs136467
dbSNP Clinvar 		32586854 472.4 C T PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.47185 0.47180 0.50 0.00 None None None None None None RFPL2|0.001341288|93.65%
View combined sample_66.variant27 22 rs136468
dbSNP Clinvar 		32586875 480.06 G A PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.46605 0.46610 0.13 0.57 None None None None None None RFPL2|0.001341288|93.65%
View combined sample_66.variant27 22 rs136469
dbSNP Clinvar 		32586878 477.07 A G PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.46605 0.46610 None None None None None None RFPL2|0.001341288|93.65%
View combined sample_66.variant27 22 rs136470
dbSNP Clinvar 		32586926 338.02 T C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.47224 0.47220 0.19 0.00 None None None None None None RFPL2|0.001341288|93.65%
View combined sample_66.variant27 22 rs16987639
dbSNP Clinvar 		32587023 1138.22 C G PASS 1/1 199 SYNONYMOUS_CODING LOW None 0.48403 0.48400 None None None None None None RFPL2|0.001341288|93.65%
View combined sample_66.variant27 22 rs136472
dbSNP Clinvar 		32587027 1162.84 G C PASS 1/1 206 NON_SYNONYMOUS_CODING MODERATE None 0.48542 0.48540 0.49554 1.00 0.00 None None None None None None RFPL2|0.001341288|93.65%
View combined sample_66.variant27 22 rs136478
dbSNP Clinvar 		32589023 946.66 C T PASS 1/1 242 NON_SYNONYMOUS_CODING MODERATE None 0.36781 0.36780 0.46763 1.00 0.10 None None None None None None RFPL2|0.001341288|93.65%
View combined sample_66.variant27 22 rs136479
dbSNP Clinvar 		32589034 1085.07 T C PASS 1/1 257 SYNONYMOUS_CODING LOW None 0.47264 0.47260 0.42365 None None None None None None RFPL2|0.001341288|93.65%
View combined sample_66.variant27 22 rs8135276
dbSNP Clinvar 		32589090 5079.39 C T PASS 0/1 319 NON_SYNONYMOUS_CODING MODERATE None 0.11282 0.11280 0.14224 0.55 0.00 None None None None None None RFPL2|0.001341288|93.65%
View combined sample_66.variant27 22 rs108211
dbSNP Clinvar 		32590449 1119.64 G A PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.46845 0.46850 0.43854 0.14 0.00 None None None None None None RFPL2|0.001341288|93.65%
  • Page 1 of 1